title: Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.
abstract: The diagnosis of Anderson-Fabry disease is often delayed or even missed. As severe renal manifestations are a hallmark of alfa-galactosidase A (AGAL) deficiency, we tested the hypothesis that Anderson-Fabry disease is under-recognized among male kidney transplant recipients. This nation-wide study in Austria enrolled 1306 patients (ca 65% of all kidney transplanted males) from 30 kidney centers. AGAL activity was determined from filter paper dried blood spots by a fluorescence assay. A positive screening test was defined by an AGAL activity below 1.5 nmol/h/ml. In patients with a positive blood spot-screening test, AGAL activity was re-examined in peripheral blood leukocytes. Genetic testing for mutations in the GLA gene was performed by sequencing to confirm the diagnosis of Anderson-Fabry disease. Two previously not recognized cases with Anderson-Fabry disease were identified. Our study is the first showing that a diagnosis of Anderson-Fabry disease can be missed even in patients who undergo kidney transplantation. Case-finding strategies may be considered a useful tool for diagnosis of this rare disease that may be somewhat more prevalent among kidney transplant recipients compared with dialysis populations.
authors.affiliation: Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria.
authors.forename: Julia
authors.initials: J
authors.lastname: Kleinert
authors.forename: Peter
authors.initials: P
authors.lastname: Kotanko
authors.forename: Marco
authors.initials: M
authors.lastname: Spada
authors.forename: Severo
authors.initials: S
authors.lastname: Pagliardini
authors.forename: Eduard
authors.initials: E
authors.lastname: Paschke
authors.forename: Karl
authors.initials: K
authors.lastname: Paul
authors.forename: Till
authors.initials: T
authors.lastname: Voigtländer
authors.forename: Manfred
authors.initials: M
authors.lastname: Wallner
authors.forename: Reinhard
authors.initials: R
authors.lastname: Kramar
authors.forename: Hans-Krister
authors.initials: HK
authors.lastname: Stummvoll
authors.forename: Christoph
authors.initials: C
authors.lastname: Schwarz
authors.forename: Sabine
authors.initials: S
authors.lastname: Horn
authors.forename: Herwig
authors.initials: H
authors.lastname: Holzer
authors.forename: Manuela
authors.initials: M
authors.lastname: Födinger
authors.forename: Gere
authors.initials: G
authors.lastname: Sunder-Plassmann
mesh_terms: D000328:Adult; D001317:Austria / Q000453:epidemiology; D000795:Fabry Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D016030:Kidney Transplantation; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D051437:Renal Insufficiency / Q000453:epidemiology / Q000235:genetics / Q000601:surgery*; D000519:alpha-Galactosidase / Q000235:genetics / Q000378:metabolism
chemical_list: D000519:alpha-Galactosidase